ClinVar Miner

List of variants reported as pathogenic for leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate

Included ClinVar conditions (1):

Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_022829.6(SLC13A3):c.1016+3A>G	rs199961976	0.00078
NM_022829.6(SLC13A3):c.1642G>A (p.Gly548Ser)	rs1568904872
NM_022829.6(SLC13A3):c.761C>A (p.Ala254Asp)	rs1568927501

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